Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Wilms tumour with features suggestive of predisposition

Clinical Indication ID & Name

R220

Wilms tumour with features suggestive of predisposition

Test Group

Inherited cancer

Specialties

Clinical Genetics Oncology

Test code

R220.1

Test name

N/A

Target genes

WT1; CDKN1C; TRIM28; REST; CTR9

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Wilms tumour, multiple nephrogenic rests or nephroblastomatosis with ONE or more of the following:
1. diagnosis <2 years, OR 2. Bilateral disease, OR 3. multifocal disease, OR 4.. Family history of Wilms tumour, OR 5. Unexplained proteinuria or renal failure, OR 6. Hypospadias, undescended testes or ambiguous genitalia, OR 7. Gonadoblastoma

Test code

R220.2

Test name

N/A

Target genes

WT1; CDKN1C; TRIM28; REST; CTR9

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Wilms tumour, multiple nephrogenic rests or nephroblastomatosis with ONE or more of the following:
1. diagnosis <2 years, OR 2. Bilateral disease, OR 3. multifocal disease, OR 4.. Family history of Wilms tumour, OR 5. Unexplained proteinuria or renal failure, OR 6. Hypospadias, undescended testes or ambiguous genitalia, OR 7. Gonadoblastoma

Test code

R220.3

Test name

N/A

Target genes

11p15 imprinted growth regulatory region

Test scope

n/a

Test method/ technology

Methylation testing

Optimal Family Structure

n/a

Eligibility Criteria

Wilms tumour, multiple nephrogenic rests or nephroblastomatosis with ONE or more of the following:
1. diagnosis <2 years, OR 2. Bilateral disease, OR 3. multifocal disease, OR 4.. Family history of Wilms tumour, OR 5. Unexplained proteinuria or renal failure, OR 6. Hypospadias, undescended testes or ambiguous genitalia, OR 7. Gonadoblastoma

Test code

R220.4

Test name

N/A

Target genes

11p15 imprinted growth regulatory region

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Wilms tumour, multiple nephrogenic rests or nephroblastomatosis with ONE or more of the following:
1. diagnosis <2 years, OR 2. Bilateral disease, OR 3. multifocal disease, OR 4.. Family history of Wilms tumour, OR 5. Unexplained proteinuria or renal failure, OR 6. Hypospadias, undescended testes or ambiguous genitalia, OR 7. Gonadoblastoma

Commissioning group

Specialised

Overlapping idications

• Individuals with aniridia should be tested via the R38 Aniridia indication • Individuals with hemihypertrophy, macroglossia or multiple features suggestive of BeckwithWiedemann should be tested via the R50 Isolated hemihypertrophy or macroglossia or R49 Beckwith Wiedemann syndrome indication • M18 Renal cell carcinoma or the associated pediatric cancer clinical indication (M173, M180, M165, M212) should be used for somatic testing Genetic testing may occasionally be appropriate outside these criteria following discussion at a specialist MDT with a cancer geneticist present

Address for samples/request forms

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

n/a

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form